Canonical Allele Identifier: CA399781823

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1459280961
• MyVariant Identifiers: chr17:g.42330703C>G (hg19) ; chr17:g.44253335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253335C>G , CM000679.2:g.44253335C>G	GRCh38
NC_000017.10:g.42330703C>G , CM000679.1:g.42330703C>G	GRCh37
NC_000017.9:g.39686229C>G	NCBI36
NG_007498.1:g.19800G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.2094G>C MANE Select	ENSP00000262418.6:p.Lys698Asn
ENST00000262418.10:c.2094G>C	ENSP00000262418.6:p.Lys698Asn
ENST00000399246.3:c.996G>C	ENSP00000382190.3:p.Lys332Asn
NM_000342.3:c.2094G>C	NP_000333.1:p.Lys698Asn
XM_005257593.3:c.1899G>C	XP_005257650.1:p.Lys633Asn
XM_011525129.1:c.2004G>C	XP_011523431.1:p.Lys668Asn
XM_011525130.1:c.2094G>C	XP_011523432.1:p.Lys698Asn
XM_005257593.5:c.1899G>C	XP_005257650.1:p.Lys633Asn
XM_011525129.2:c.2004G>C	XP_011523431.1:p.Lys668Asn
NM_000342.4:c.2094G>C MANE Select	NP_000333.1:p.Lys698Asn