Canonical Allele Identifier: CA1046227854

Gene: SLC4A7

Linked Data

• dbSNP Id: rs2049768093
• gnomAD v3: 3-27374468-A-G
• gnomAD v4: 3-27374468-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.27374468A>G , CM000665.2:g.27374468A>G	GRCh38
NC_000003.11:g.27415959A>G , CM000665.1:g.27415959A>G	GRCh37
NC_000003.10:g.27390963A>G	NCBI36
NG_032673.1:g.114953T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000454389.6:c.*2296T>C MANE Select	ENSP00000390394.1:n.*2296T>C
ENST00000295736.9:c.*2296T>C	ENSP00000295736.5:n.*2296T>C
ENST00000419036.5:c.4702T>C	ENSP00000411031.1:n.4702T>C
ENST00000425128.6:c.*2296T>C	ENSP00000401949.3:n.*2296T>C
ENST00000428386.5:c.*2296T>C	ENSP00000416368.1:n.*2296T>C
NM_001258379.1:c.*2296T>C	NP_001245308.1:n.*2296T>C
NM_001258380.1:c.*2296T>C	NP_001245309.1:n.*2296T>C
NM_003615.4:c.*2296T>C	NP_003606.3:n.*2296T>C
XM_005265598.3:c.*2296T>C	XP_005265655.1:n.*2296T>C
XM_005265600.3:c.*2296T>C	XP_005265657.1:n.*2296T>C
XM_005265601.1:c.*2296T>C	XP_005265658.1:n.*2296T>C
XM_006713421.1:c.*2296T>C	XP_006713484.1:n.*2296T>C
XM_011534255.1:c.*2296T>C	XP_011532557.1:n.*2296T>C
XM_011534256.1:c.*2296T>C	XP_011532558.1:n.*2296T>C
XM_011534257.1:c.*2296T>C	XP_011532559.1:n.*2296T>C
XM_011534258.1:c.*2296T>C	XP_011532560.1:n.*2296T>C
XM_011534259.1:c.*2296T>C	XP_011532561.1:n.*2296T>C
XM_011534260.1:c.*2296T>C	XP_011532562.1:n.*2296T>C
XM_011534261.1:c.*2296T>C	XP_011532563.1:n.*2296T>C
XM_011534262.1:c.*2296T>C	XP_011532564.1:n.*2296T>C
XM_011534263.1:c.*2296T>C	XP_011532565.1:n.*2296T>C
XM_011534264.1:c.*2296T>C	XP_011532566.1:n.*2296T>C
XM_011534265.1:c.*2296T>C	XP_011532567.1:n.*2296T>C
NM_001321103.1:c.*2296T>C	NP_001308032.1:n.*2296T>C
NM_001321104.1:c.*2296T>C	NP_001308033.1:n.*2296T>C
NM_001321105.1:c.*2296T>C	NP_001308034.1:n.*2296T>C
NM_001321106.1:c.*2296T>C	NP_001308035.1:n.*2296T>C
NM_001321107.1:c.*2296T>C	NP_001308036.1:n.*2296T>C
NM_001321108.1:c.*2296T>C	NP_001308037.1:n.*2296T>C
NR_135541.1:n.6036T>C
NR_135542.1:n.5811T>C
NR_135543.1:n.5703T>C
NR_135544.1:n.6144T>C
XM_005265598.5:c.*2296T>C	XP_005265655.1:n.*2296T>C
XM_005265600.5:c.*2296T>C	XP_005265657.1:n.*2296T>C
XM_006713421.3:c.*2296T>C	XP_006713484.1:n.*2296T>C
XM_011534256.3:c.*2296T>C	XP_011532558.1:n.*2296T>C
XM_011534258.2:c.*2296T>C	XP_011532560.1:n.*2296T>C
XM_011534261.3:c.*2296T>C	XP_011532563.1:n.*2296T>C
XM_011534263.3:c.*2296T>C	XP_011532565.1:n.*2296T>C
XM_011534265.2:c.*2296T>C	XP_011532567.1:n.*2296T>C
XM_017007526.2:c.*2296T>C	XP_016863015.1:n.*2296T>C
XM_017007527.2:c.*2296T>C	XP_016863016.1:n.*2296T>C
XM_017007528.1:c.*2296T>C	XP_016863017.1:n.*2296T>C
XM_017007529.1:c.*2296T>C	XP_016863018.1:n.*2296T>C
XR_001740371.2:n.5809T>C
XR_001740372.2:n.5701T>C
NM_001258379.2:c.*2296T>C	NP_001245308.1:n.*2296T>C
NM_001258380.2:c.*2296T>C	NP_001245309.1:n.*2296T>C
NM_001321103.2:c.*2296T>C MANE Select	NP_001308032.1:n.*2296T>C
NM_001321104.2:c.*2296T>C	NP_001308033.1:n.*2296T>C
NM_001321105.2:c.*2296T>C	NP_001308034.1:n.*2296T>C
NM_001321106.2:c.*2296T>C	NP_001308035.1:n.*2296T>C
NM_001321107.2:c.*2296T>C	NP_001308036.1:n.*2296T>C
NM_001321108.2:c.*2296T>C	NP_001308037.1:n.*2296T>C
NM_003615.5:c.*2296T>C	NP_003606.3:n.*2296T>C
NR_135541.2:n.6000T>C
NR_135542.2:n.5775T>C
NR_135543.2:n.5667T>C
NR_135544.2:n.6108T>C