Canonical Allele Identifier: CA127377

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17757
• ClinVar RCV Id: RCV000019334
• dbSNP Id: rs121912743
• ExAC: 17:42333172 C / T
• gnomAD v2: 17-42333172-C-T
• gnomAD v3: 17-44255804-C-T
• gnomAD v4: 17-44255804-C-T
• MyVariant Identifiers: chr17:g.42333172C>T (hg19) ; chr17:g.44255804C>T (hg38)
• PubMed: PMID:8873423

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255804C>T , CM000679.2:g.44255804C>T	GRCh38
NC_000017.10:g.42333172C>T , CM000679.1:g.42333172C>T	GRCh37
NC_000017.9:g.39688698C>T	NCBI36
NG_007498.1:g.17331G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1669G>A MANE Select	ENSP00000262418.6:p.Val557Met
ENST00000262418.10:c.1669G>A	ENSP00000262418.6:p.Val557Met
ENST00000399246.3:c.778-583G>A	ENSP00000382190.3:n.778-583G>A
NM_000342.3:c.1669G>A	NP_000333.1:p.Val557Met
XM_005257593.3:c.1474G>A	XP_005257650.1:p.Val492Met
XM_011525129.1:c.1669G>A	XP_011523431.1:p.Val557Met
XM_011525130.1:c.1669G>A	XP_011523432.1:p.Val557Met
XM_011525131.1:c.1669G>A	XP_011523433.1:p.Val557Met
XM_005257593.5:c.1474G>A	XP_005257650.1:p.Val492Met
XM_011525129.2:c.1669G>A	XP_011523431.1:p.Val557Met
NM_000342.4:c.1669G>A MANE Select	NP_000333.1:p.Val557Met