Canonical Allele Identifier: CA8685542

Gene: CA4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60159292T>C , CM000679.2:g.60159292T>C	GRCh38
NC_000017.10:g.58236653T>C , CM000679.1:g.58236653T>C	GRCh37
NC_000017.9:g.55591435T>C	NCBI36
NG_012050.1:g.14352T>C
NG_012050.2:g.14352T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000717.5:c.807T>C MANE Select	NP_000708.1:p.Asn269=
ENST00000300900.9:c.807T>C MANE Select	ENSP00000300900.3:p.Asn269=
NM_000717.3:c.807T>C	NP_000708.1:p.Asn269=
NM_000717.4:c.807T>C	NP_000708.1:p.Asn269=
NR_137422.1:n.906T>C
NR_137422.2:n.869T>C
ENST00000300900.8:c.807T>C	ENSP00000300900.3:p.Asn269=
ENST00000586876.1:c.*178+846T>C	ENSP00000467465.1:n.*178+846T>C
ENST00000590203.1:c.423T>C	ENSP00000465837.1:p.Asn141=
XM_005257639.1:c.879T>C	XP_005257696.1:p.Asn293=
XM_005257639.3:c.879T>C	XP_005257696.1:p.Asn293=
XM_011525183.1:c.609T>C	XP_011523485.1:p.Asn203=
XM_011525183.2:c.609T>C	XP_011523485.1:p.Asn203=
XM_017025012.1:c.537T>C	XP_016880501.1:p.Asn179=
XR_001752604.2:n.972T>C
XR_001752605.2:n.972T>C
XR_001752606.2:n.972T>C
XR_001752607.2:n.900T>C
XR_001752608.2:n.900T>C
XR_001752609.2:n.900T>C
XR_001752610.2:n.900T>C