Canonical Allele Identifier: CA8685481

Gene: CA4

Linked Data

• ClinVar Variation Id: 324235
• ClinVar RCV Id: RCV000277486 ; RCV001423361
• dbSNP Id: rs144467811
• ExAC: 17:58235744 G / A
• gnomAD v2: 17-58235744-G-A
• gnomAD v3: 17-60158383-G-A
• gnomAD v4: 17-60158383-G-A
• MyVariant Identifiers: chr17:g.58235744G>A (hg19) ; chr17:g.60158383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60158383G>A , CM000679.2:g.60158383G>A	GRCh38
NC_000017.10:g.58235744G>A , CM000679.1:g.58235744G>A	GRCh37
NC_000017.9:g.55590526G>A	NCBI36
NG_012050.1:g.13443G>A
NG_012050.2:g.13443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.681G>A MANE Select	ENSP00000300900.3:p.Pro227=
ENST00000300900.8:c.681G>A	ENSP00000300900.3:p.Pro227=
ENST00000586876.1:c.*115G>A	ENSP00000467465.1:n.*115G>A
ENST00000587265.1:c.121G>A
ENST00000590203.1:c.297G>A	ENSP00000465837.1:p.Pro99=
NM_000717.3:c.681G>A	NP_000708.1:p.Pro227=
XM_005257639.1:c.753G>A	XP_005257696.1:p.Pro251=
XM_011525183.1:c.483G>A	XP_011523485.1:p.Pro161=
NM_000717.4:c.681G>A	NP_000708.1:p.Pro227=
NR_137422.1:n.780G>A
XM_005257639.3:c.753G>A	XP_005257696.1:p.Pro251=
XM_011525183.2:c.483G>A	XP_011523485.1:p.Pro161=
XM_017025012.1:c.411G>A	XP_016880501.1:p.Pro137=
XR_001752604.2:n.846G>A
XR_001752605.2:n.846G>A
XR_001752606.2:n.846G>A
XR_001752607.2:n.774G>A
XR_001752608.2:n.774G>A
XR_001752609.2:n.774G>A
XR_001752610.2:n.774G>A
NM_000717.5:c.681G>A MANE Select	NP_000708.1:p.Pro227=
NR_137422.2:n.743G>A