Canonical Allele Identifier: CA100084163

Gene:

Linked Data

• dbSNP Id: rs566105885
• gnomAD v3: 4-74554075-G-C
• gnomAD v4: 4-74554075-G-C
• MyVariant Identifiers: chr4:g.75419792G>C (hg19) ; chr4:g.74554075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554075G>C , CM000666.2:g.74554075G>C	GRCh38
NC_000004.11:g.75419792G>C , CM000666.1:g.75419792G>C	GRCh37
NC_000004.10:g.75638656G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1243C>G