Canonical Allele Identifier: CA127399

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17773
• ClinVar RCV Id: RCV000019350 ; RCV001254881 ; RCV001851941 ; RCV002496417
• dbSNP Id: rs28931584
• gnomAD v2: 17-42334882-C-T
• gnomAD v3: 17-44257514-C-T
• gnomAD v4: 17-44257514-C-T
• COSMIC: COSM187667
• MyVariant Identifiers: chr17:g.42334882C>T (hg19) ; chr17:g.44257514C>T (hg38)
• PubMed: PMID:9207478 ; PMID:10942416

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44257514C>T , CM000679.2:g.44257514C>T	GRCh38
NC_000017.10:g.42334882C>T , CM000679.1:g.42334882C>T	GRCh37
NC_000017.9:g.39690408C>T	NCBI36
NG_007498.1:g.15621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1462G>A MANE Select	ENSP00000262418.6:p.Val488Met
ENST00000262418.10:c.1462G>A	ENSP00000262418.6:p.Val488Met
ENST00000399246.3:c.777+1748G>A	ENSP00000382190.3:n.777+1748G>A
ENST00000497360.5:n.1601G>A
NM_000342.3:c.1462G>A	NP_000333.1:p.Val488Met
XM_005257593.3:c.1267G>A	XP_005257650.1:p.Val423Met
XM_011525129.1:c.1462G>A	XP_011523431.1:p.Val488Met
XM_011525130.1:c.1462G>A	XP_011523432.1:p.Val488Met
XM_011525131.1:c.1462G>A	XP_011523433.1:p.Val488Met
XM_005257593.5:c.1267G>A	XP_005257650.1:p.Val423Met
XM_011525129.2:c.1462G>A	XP_011523431.1:p.Val488Met
NM_000342.4:c.1462G>A MANE Select	NP_000333.1:p.Val488Met