Canonical Allele Identifier: CA612440807
Gene:

Linked Data

dbSNP Id: rs1271953852
gnomAD v2: 14-21261705-A-C
gnomAD v3: 14-20793546-A-C
gnomAD v4: 14-20793546-A-C
MyVariant Identifiers: chr14:g.21261705A>C (hg19) chr14:g.20793546A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793546A>C , CM000676.2:g.20793546A>C GRCh38
NC_000014.8:g.21261705A>C , CM000676.1:g.21261705A>C GRCh37
NC_000014.7:g.20331545A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943584.1:n.585+760A>C
XR_943585.1:n.585+760A>C
XR_001750620.1:n.3271+760A>C
XR_001750621.1:n.3271+760A>C
XR_001750622.1:n.637+6358T>G
XR_001750623.1:n.637+6358T>G
XR_001750624.1:n.637+6358T>G
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