Canonical Allele Identifier: CA8685357

Gene: CA4

Linked Data

• ClinVar Variation Id: 324231
• ClinVar RCV Id: RCV000366585 ; RCV000757049 ; RCV003940282 ; RCV003888774
• dbSNP Id: rs185658468
• ExAC: 17:58235051 A / T
• gnomAD v2: 17-58235051-A-T
• gnomAD v3: 17-60157690-A-T
• gnomAD v4: 17-60157690-A-T
• MyVariant Identifiers: chr17:g.58235051A>T (hg19) ; chr17:g.60157690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60157690A>T , CM000679.2:g.60157690A>T	GRCh38
NC_000017.10:g.58235051A>T , CM000679.1:g.58235051A>T	GRCh37
NC_000017.9:g.55589833A>T	NCBI36
NG_012050.1:g.12750A>T
NG_012050.2:g.12750A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.415A>T MANE Select	ENSP00000300900.3:p.Met139Leu
ENST00000300900.8:c.415A>T	ENSP00000300900.3:p.Met139Leu
ENST00000586876.1:c.269-371A>T	ENSP00000467465.1:n.269-371A>T
NM_000717.3:c.415A>T	NP_000708.1:p.Met139Leu
XM_005257639.1:c.415A>T	XP_005257696.1:p.Met139Leu
XM_011525183.1:c.145A>T	XP_011523485.1:p.Met49Leu
NM_000717.4:c.415A>T	NP_000708.1:p.Met139Leu
NR_137422.1:n.514A>T
XM_005257639.3:c.415A>T	XP_005257696.1:p.Met139Leu
XM_011525183.2:c.145A>T	XP_011523485.1:p.Met49Leu
XM_017025012.1:c.145A>T	XP_016880501.1:p.Met49Leu
XR_001752604.2:n.508A>T
XR_001752605.2:n.508A>T
XR_001752606.2:n.508A>T
XR_001752607.2:n.508A>T
XR_001752608.2:n.508A>T
XR_001752609.2:n.508A>T
XR_001752610.2:n.508A>T
NM_000717.5:c.415A>T MANE Select	NP_000708.1:p.Met139Leu
NR_137422.2:n.477A>T