Canonical Allele Identifier: CA99475993

Gene: SLC4A4

Linked Data

• dbSNP Id: rs182084267
• gnomAD v3: 4-71570743-A-C
• gnomAD v4: 4-71570743-A-C
• MyVariant Identifiers: chr4:g.72436460A>C (hg19) ; chr4:g.71570743A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71570743A>C , CM000666.2:g.71570743A>C	GRCh38
NC_000004.11:g.72436460A>C , CM000666.1:g.72436460A>C	GRCh37
NC_000004.10:g.72655324A>C	NCBI36
NG_012653.1:g.388458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698522.1:c.*2992A>C	ENSP00000513771.1:n.*2992A>C
ENST00000264485.11:c.*2992A>C MANE Select	ENSP00000264485.5:n.*2992A>C
ENST00000340595.4:c.*2992A>C MANE Plus Clinical	ENSP00000344272.3:n.*2992A>C
ENST00000340595.3:c.*2992A>C	ENSP00000344272.3:n.*2992A>C
ENST00000425175.5:c.*2850A>C	ENSP00000393557.1:n.*2850A>C
NM_001098484.2:c.*2992A>C	NP_001091954.1:n.*2992A>C
NM_001134742.1:c.*2850A>C	NP_001128214.1:n.*2850A>C
NM_003759.3:c.*2992A>C	NP_003750.1:n.*2992A>C
XM_011532390.1:c.*2992A>C	XP_011530692.1:n.*2992A>C
XM_017008792.1:c.*2992A>C	XP_016864281.1:n.*2992A>C
XM_017008793.1:c.*2992A>C	XP_016864282.1:n.*2992A>C
XM_024454267.1:c.*2992A>C	XP_024310035.1:n.*2992A>C
XM_024454268.1:c.*2992A>C	XP_024310036.1:n.*2992A>C
XM_024454269.1:c.*2992A>C	XP_024310037.1:n.*2992A>C
XM_024454270.1:c.*2992A>C	XP_024310038.1:n.*2992A>C
XM_024454271.1:c.*2992A>C	XP_024310039.1:n.*2992A>C
XM_024454272.1:c.*2992A>C	XP_024310040.1:n.*2992A>C
NM_001098484.3:c.*2992A>C MANE Select	NP_001091954.1:n.*2992A>C
NM_001134742.2:c.*2850A>C	NP_001128214.1:n.*2850A>C
NM_003759.4:c.*2992A>C MANE Plus Clinical	NP_003750.1:n.*2992A>C