Canonical Allele Identifier: CA399783454

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42332004C>G (hg19) ; chr17:g.44254636C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254636C>G , CM000679.2:g.44254636C>G	GRCh38
NC_000017.10:g.42332004C>G , CM000679.1:g.42332004C>G	GRCh37
NC_000017.9:g.39687530C>G	NCBI36
NG_007498.1:g.18499G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1917G>C MANE Select	ENSP00000262418.6:p.Lys639Asn
ENST00000262418.10:c.1917G>C	ENSP00000262418.6:p.Lys639Asn
ENST00000399246.3:c.819G>C	ENSP00000382190.3:p.Lys273Asn
NM_000342.3:c.1917G>C	NP_000333.1:p.Lys639Asn
XM_005257593.3:c.1722G>C	XP_005257650.1:p.Lys574Asn
XM_011525129.1:c.1827G>C	XP_011523431.1:p.Lys609Asn
XM_011525130.1:c.1917G>C	XP_011523432.1:p.Lys639Asn
XM_011525131.1:c.1917G>C	XP_011523433.1:p.Lys639Asn
XM_005257593.5:c.1722G>C	XP_005257650.1:p.Lys574Asn
XM_011525129.2:c.1827G>C	XP_011523431.1:p.Lys609Asn
NM_000342.4:c.1917G>C MANE Select	NP_000333.1:p.Lys639Asn