Canonical Allele Identifier: CA573373499

Gene:

Linked Data

• dbSNP Id: rs1213142246
• gnomAD v2: 7-24323193-A-G
• gnomAD v3: 7-24283574-A-G
• gnomAD v4: 7-24283574-A-G
• MyVariant Identifiers: chr7:g.24323193A>G (hg19) ; chr7:g.24283574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283574A>G , CM000669.2:g.24283574A>G	GRCh38
NC_000007.13:g.24323193A>G , CM000669.1:g.24323193A>G	GRCh37
NC_000007.12:g.24289718A>G	NCBI36
NG_016148.1:g.4387A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27875T>C	XP_016868399.1:n.42-27875T>C
XM_017012911.1:c.42-27875T>C	XP_016868400.1:n.42-27875T>C
XR_001745121.1:n.473+35783T>C
XR_001745122.1:n.345-86545T>C
XR_001745123.1:n.473+35783T>C
XR_001745124.1:n.473+35783T>C
XR_001745125.1:n.473+35783T>C
XR_001745126.1:n.473+35783T>C
XR_001745127.1:n.345-27875T>C
XR_001745129.1:n.473+35783T>C
XR_001745130.1:n.473+35783T>C
XR_001745131.1:n.473+35783T>C
XR_001745132.1:n.473+35783T>C