Canonical Allele Identifier: CA555415621

Gene:

Linked Data

• dbSNP Id: rs1189552461
• gnomAD v2: 4-145480935-T-C
• gnomAD v3: 4-144559783-T-C
• gnomAD v4: 4-144559783-T-C
• MyVariant Identifiers: chr4:g.145480935T>C (hg19) ; chr4:g.144559783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559783T>C , CM000666.2:g.144559783T>C	GRCh38
NC_000004.11:g.145480935T>C , CM000666.1:g.145480935T>C	GRCh37
NC_000004.10:g.145700385T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143805A>G	ENSP00000497507.1:n.328-143805A>G
XR_939272.1:n.178+2201A>G
XR_939273.1:n.178+2201A>G
XR_939272.2:n.522+2201A>G
XR_939273.2:n.522+2201A>G