Canonical Allele Identifier: CA500285863

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1226712124
• gnomAD v2: 17-42332016-A-G
• gnomAD v4: 17-44254648-A-G
• MyVariant Identifiers: chr17:g.42332016A>G (hg19) ; chr17:g.44254648A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254648A>G , CM000679.2:g.44254648A>G	GRCh38
NC_000017.10:g.42332016A>G , CM000679.1:g.42332016A>G	GRCh37
NC_000017.9:g.39687542A>G	NCBI36
NG_007498.1:g.18487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1905T>C MANE Select	ENSP00000262418.6:p.Pro635=
ENST00000262418.10:c.1905T>C	ENSP00000262418.6:p.Pro635=
ENST00000399246.3:c.807T>C	ENSP00000382190.3:p.Pro269=
NM_000342.3:c.1905T>C	NP_000333.1:p.Pro635=
XM_005257593.3:c.1710T>C	XP_005257650.1:p.Pro570=
XM_011525129.1:c.1815T>C	XP_011523431.1:p.Pro605=
XM_011525130.1:c.1905T>C	XP_011523432.1:p.Pro635=
XM_011525131.1:c.1905T>C	XP_011523433.1:p.Pro635=
XM_005257593.5:c.1710T>C	XP_005257650.1:p.Pro570=
XM_011525129.2:c.1815T>C	XP_011523431.1:p.Pro605=
NM_000342.4:c.1905T>C MANE Select	NP_000333.1:p.Pro635=