Canonical Allele Identifier: CA552533455

Gene:

Linked Data

• dbSNP Id: rs1553939503
• gnomAD v2: 4-75419966-T-C
• gnomAD v3: 4-74554249-T-C
• gnomAD v4: 4-74554249-T-C
• MyVariant Identifiers: chr4:g.75419966T>C (hg19) ; chr4:g.74554249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554249T>C , CM000666.2:g.74554249T>C	GRCh38
NC_000004.11:g.75419966T>C , CM000666.1:g.75419966T>C	GRCh37
NC_000004.10:g.75638830T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1417A>G