Canonical Allele Identifier: CA553749305
Gene:

Linked Data

dbSNP Id: rs1250225822
gnomAD v2: 4-103421124-G-C
gnomAD v3: 4-102499967-G-C
gnomAD v4: 4-102499967-G-C
MyVariant Identifiers: chr4:g.103421124G>C (hg19) chr4:g.102499967G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499967G>C , CM000666.2:g.102499967G>C GRCh38
NC_000004.11:g.103421124G>C , CM000666.1:g.103421124G>C GRCh37
NC_000004.10:g.103640156G>C NCBI36
NG_050628.1:g.3639G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1282C>G XP_011530769.1:n.643+1282C>G
NR_136202.1:n.48+2472C>G
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