Canonical Allele Identifier: CA127399
Gene: SLC4A1 HGNC NCBI

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
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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
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