Canonical Allele Identifier: CA8600164

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 889445
• ClinVar RCV Id: RCV001123372 ; RCV001123373 ; RCV001127478
• dbSNP Id: rs763988041
• ExAC: 17:42331993 G / A
• gnomAD v2: 17-42331993-G-A
• gnomAD v3: 17-44254625-G-A
• gnomAD v4: 17-44254625-G-A
• MyVariant Identifiers: chr17:g.42331993G>A (hg19) ; chr17:g.44254625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254625G>A , CM000679.2:g.44254625G>A	GRCh38
NC_000017.10:g.42331993G>A , CM000679.1:g.42331993G>A	GRCh37
NC_000017.9:g.39687519G>A	NCBI36
NG_007498.1:g.18510C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1928C>T MANE Select	ENSP00000262418.6:p.Ser643Phe
ENST00000262418.10:c.1928C>T	ENSP00000262418.6:p.Ser643Phe
ENST00000399246.3:c.830C>T	ENSP00000382190.3:p.Ser277Phe
NM_000342.3:c.1928C>T	NP_000333.1:p.Ser643Phe
XM_005257593.3:c.1733C>T	XP_005257650.1:p.Ser578Phe
XM_011525129.1:c.1838C>T	XP_011523431.1:p.Ser613Phe
XM_011525130.1:c.1928C>T	XP_011523432.1:p.Ser643Phe
XM_011525131.1:c.1928C>T	XP_011523433.1:p.Ser643Phe
XM_005257593.5:c.1733C>T	XP_005257650.1:p.Ser578Phe
XM_011525129.2:c.1838C>T	XP_011523431.1:p.Ser613Phe
NM_000342.4:c.1928C>T MANE Select	NP_000333.1:p.Ser643Phe