Canonical Allele Identifier: CA156111471

Gene:

Linked Data

• dbSNP Id: rs28362691
• gnomAD v2: 7-30951120-G-C
• gnomAD v3: 7-30911505-G-C
• gnomAD v4: 7-30911505-G-C
• MyVariant Identifiers: chr7:g.30951120G>C (hg19) ; chr7:g.30911505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911505G>C , CM000669.2:g.30911505G>C	GRCh38
NC_000007.13:g.30951120G>C , CM000669.1:g.30951120G>C	GRCh37
NC_000007.12:g.30917645G>C	NCBI36
NG_007475.2:g.63112G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-488G>C